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Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxová A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafé L. Campos-Xavier AB, et al. Among authors: ballhausen d. Am J Hum Genet. 2009 Jun;84(6):760-70. doi: 10.1016/j.ajhg.2009.05.002. Epub 2009 May 28. Am J Hum Genet. 2009. PMID: 19481194 Free PMC article.
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.
Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafé L, Giedion A, Unger S, Superti-Furga A. Renella R, et al. Among authors: ballhausen d. Am J Med Genet A. 2006 Mar 15;140(6):541-50. doi: 10.1002/ajmg.a.31081. Am J Med Genet A. 2006. PMID: 16470600
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O, Superti-Furga A, Ballhausen D, Bonafé L. Jequier Gygax M, et al. Among authors: ballhausen d. Eur J Pediatr. 2009 Aug;168(8):957-62. doi: 10.1007/s00431-008-0869-9. Epub 2008 Nov 13. Eur J Pediatr. 2009. PMID: 19005678 Review.
66 results